What Is Familial Hypertriglyceridemia?

Familial hypertriglyceridemia is an inherited disorder characterized by high levels of triglycerides in the blood. Triglycerides are a type of fat that is found in the bloodstream and is stored in fat cells. High levels of triglycerides can increase the risk of heart disease and stroke.

Familial hypertriglyceridemia is caused by a mutation in the LPL gene, which codes for lipoprotein lipase. This enzyme helps to break down triglycerides into fatty acids that can be used for energy. When the LPL gene is mutated, the body is unable to break down triglycerides effectively, leading to a buildup of triglycerides in the bloodstream.

Familial hypertriglyceridemia is usually inherited in an autosomal dominant manner, which means that only one copy of the mutated gene is needed to cause the condition. However, some cases of familial hypertriglyceridemia are inherited in a more complex manner, involving multiple genes and environmental factors.

Symptoms of familial hypertriglyceridemia may include:

* High levels of triglycerides in the blood

* Fatty deposits on the skin (xanthomas)

* Abdominal pain

* Nausea

* Vomiting

* Diarrhea

* Fatigue

* Weakness

Treatment for familial hypertriglyceridemia typically involves a combination of lifestyle modifications and medications. Lifestyle modifications may include:

* Eating a healthy diet that is low in saturated fat, cholesterol, and refined carbohydrates

* Exercising regularly

* Losing weight if overweight or obese

* Avoiding smoking

* Limiting alcohol intake

Medications that may be used to treat familial hypertriglyceridemia include:

* Statins

* Fibrates

* Niacin

* Omega-3 fatty acids

* Bile acid sequestrants

Familial hypertriglyceridemia is a lifelong condition, but it can be managed with proper treatment and lifestyle modifications. By following a healthy lifestyle and taking medications as prescribed, individuals with familial hypertriglyceridemia can reduce their risk of heart disease and stroke.

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